Canonical Allele Identifier: CA348868754
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570002T>C , CM000664.2:g.149570002T>C GRCh38
NC_000002.11:g.150426516T>C , CM000664.1:g.150426516T>C GRCh37
NC_000002.10:g.150134762T>C NCBI36
NG_009189.1:g.22815A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.863A>G MANE Select ENSP00000301920.5:p.His288Arg
ENST00000303319.9:c.863A>G ENSP00000301920.5:p.His288Arg
ENST00000422782.2:c.965A>G ENSP00000408331.2:p.His322Arg
ENST00000428879.5:c.863A>G ENSP00000389060.1:p.His288Arg
NM_015702.2:c.863A>G NP_056517.1:p.His288Arg
NM_015702.3:c.863A>G MANE Select NP_056517.1:p.His288Arg